{"Name":"Acrocephalosyndactyly type V","DiseaseID__c":"GARD:0002549","id":2549,"encodedName":"acrocephalosyndactyly-type-v","IsDeleted":false,"Disease_Name_Full__c":"Acrocephalosyndactyly type V","Xref_IDs__c":"720600004; C0265303; C537287; MEDGEN:78551; MONDO:0008711; OMIM:201020","USA_Estimate__c":"1,000","No_of_Specialist_Tagsa__c":0,"No_of_ClinGen_records__c":0,"No_of_GeneReviews__c":0,"No_of_HHS_records__c":0,"World_Estimate__c":"1 to 8,000","No_of_HRSA_records__c":0,"Evidence_Based_Score__c":0,"No_of_Disease_Descriptions__c":2,"Disease_Characteristics_Score__c":1,"No_of_Age_at_Onset__c":0,"Description_Source__c":"MONDO:0008711","Disease_Description__c":"Goodman syndrome is an extremely rare genetic disorder characterized by marked malformations of the head and face (essentially acrocephaly), abnormalities of the hands and feet (polydactyly, syndactyly, clinodactyly, camptodactyly, ulnar deviation), and congenital heart disease. There have been no further descriptions in the literature since 1979. Goodman syndrome could be a variant of Carpenter syndrome.","GARD_Name__c":"Acrocephalosyndactyly type V","GARD_Synonym__c":"acps 4; acps iv; acps4; acrocephalopolysyndactyly type 4; acrocephalopolysyndactyly type iv; goodman syndrome","Curated_Disease_Description_Source__c":"ORPHA:65798","Curated_Disease_Description__c":"A rare syndromic trigonocephaly characterized by marked malformations of the head and face (essentially acrocephaly), broad depressed nasal bridge, narrow maxillae, abnormalities of the hands and feet (polydactyly, brachydactyly, syndactyly, clinodactyly, camptodactyly, ulnar deviation), obesity and congenital heart disease. This disease is considered a variant of Carpenter syndrome without intellectual disability.","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":"1,000","Age_at_Onset_Snippet_Text__c":null,"SourceID__c":"ORPHA:65798","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Entity","MONDO_ID__c":"MONDO:0008711","ORPHANET_ID__c":null,"Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":null,"Spanish_Description_Source__c":null,"Spanish_Description__c":null,"Spanish_Disease_Name__c":null,"Spanish_GARD_Synonym__c":null,"Category_Linearization__c":null,"icd10_id__c":null,"mesh_id__c":null,"omim_id__c":null,"snomed_id__c":null,"umls_id__c":null,"GARD_Disease__c":[{"Curated_Disease_Description__c":"A rare syndromic trigonocephaly characterized by marked malformations of the head and face (essentially acrocephaly), broad depressed nasal bridge, narrow maxillae, abnormalities of the hands and feet (polydactyly, brachydactyly, syndactyly, clinodactyly, camptodactyly, ulnar deviation), obesity and congenital heart disease. This disease is considered a variant of Carpenter syndrome without intellectual disability.","Curated_Disease_Description_Source__c":"ORPHA:65798","GARD_Synonym__c":"acps 4; acps iv; acps4; acrocephalopolysyndactyly type 4; acrocephalopolysyndactyly type iv; goodman syndrome","Name":"Acrocephalosyndactyly type V","Curated_USA_Estimate__c":"1,000","estimateUsa":"1,000"}],"External_Identifier_Disease__c":[{"URL__c":"https://www.ncbi.nlm.nih.gov/mesh/C537287","Source__c":"MONDO:0008711","Xref__c":"C537287"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=78551","Source__c":"C0265303","Xref__c":"MEDGEN:78551"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=720600004","Source__c":"MONDO:0008711","Xref__c":"720600004"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C0265303","Source__c":"C0265303","Xref__c":"C0265303"},{"URL__c":"https://www.omim.org/entry/201020","Source__c":"C0265303; MONDO:0008711","Xref__c":"OMIM:201020"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0008711","Source__c":"GARD:0002549","Xref__c":"MONDO:0008711"}],"tags":{},"synonyms":["acps 4"," acps iv"," acps4"," acrocephalopolysyndactyly type 4"," acrocephalopolysyndactyly type iv"," goodman syndrome"]}